UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:MCT3
HGNC Symbol:SLC16A8
HGNC Description:solute carrier family 16 (monocarboxylate transporter), member 8
HGNC ID:16270
Superfamily:SLC
Chromosome:Chr.22(-): 38474144-38479170 GRCh37
Location:22q12.3-q13.2
OMIM:610409
OMIM Phenotype:None
Accessions:AF132610
Nucleotide RefSeq:NM_013356
Protein RefSeq:NP_037488
Entrez:23539
Ensembl:ENSG00000100156
Isoforms:1
Evidence:Substrate In Vitro Evidence: The human MCT3 transporter has not been studied in heterologous expression systems. Chick MCT3 was shown to transport lactate using a yeast expression system (Grollman EF, Philp NJ, McPhie P, Ward RD, Sauer B. Determination of transport kinetics of chick MCT3 monocarboxylate transporter from retinal pigment epithelium by expression in genetically modified yeast. Biochemistry 39:9351-9357, 2000). . Tissue Distribution Evidence: Tissue distribution of SLC16A8 has not been studied in humans. In mouse, MCT3 expression is restricted to retinal pigment and choroid plexus epithelia as determined by Northern blot (Philp NJ, Yoon H, Lombardi L. Mouse MCT3 gene is expressed preferentially in retinal pigment and choroid plexus epithelia. Am J Physiol Cell Physiol 280(5):C1319-26, 2001).
Tissues:Mice: retinal pigment and choroid plexus epithelia
Type:protein-coding
Sets:0
PharmGKB ID:PA38106
HPRD ID:11568
Substrates:Lactate
Trivial Names:MCT3, REMP
Transcripts:NM_013356.2 [Chr.22(-): 38474144-38479170 GRCh37]
ENST00000320521 [Chr.22(-): 38474141-38479149 GRCh37]
ENST00000427592 [Chr.22(-): 38477962-38480100 GRCh37]
ENST00000469516 [Chr.22(-): 38474141-38480100 GRCh37]
Annotation History:View Events (2)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC16A8.

Variant Data

View all PMT variants for SLC16A8 on UCSC Genome Browser
Showing SNP features for transcript: NM_013356  
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.